Today, 06 June, is Sacral Agenesis Awareness Day.
Sacral agenesis (or Caudal Regression Syndrome) is a congenital disorder in which there is abnormal foetal development of the lower spine.
The condition exists in a variety of forms, ranging from partial absence of the tail bone regions of the spine to absence of the lower vertebrae, pelvis and parts of the thoracic and/or lumbar areas of the spine. In some cases where only a small part of the spine is absent, there may be no outward sign of the condition. In cases where more substantial areas of the spine are absent, there may be fused, webbed, or smaller lower extremities and paralysis.
Sacral agenesis syndrome is usually associated with maternal diabetes, but not gestational diabetes, but not all children born with Sacral Agenesis have diabetic mothers.
Before advances in medical treatment were available, full amputation of the legs at the hip was often performed. More recently, the ‘amputation’ (actually a disarticulation because no cutting of the bone is involved) is done at the knee for those who have bent knee positions and webbing between thigh and calf to enable more ease of mobility and better seating. Some children with knee disarticulation use prosthetic legs to walk. Prosthetics for children without substantial hip and trunk control is usually abandoned in favor of faster and easier wheelchair mobility as the child’s weight and age increases. Children may ‘walk’ on their hands and generally are able to climb and move about to accomplish whatever they need and want to accomplish. Children more mildly affected may have normal gait and no need for assistive devices for walking. Others may walk with bracing or crutches.
There is typically no cognitive impairment associated with this disability. Adults with this disability live independently, attend college, and have careers in various fields.
It occurs at a rate of approximately one per 25,000 live births.
(information taken from Wikipedia where you can read the article in full)
I was diagnosed in 1985 at birth. My mum had scans during her pregnancy which flagged up abnormalities but, thankfully my mum and dad decided that they were going to love me no matter what. My mum had a c-section as I was breach and my birth saw doctors reaching for various textbooks before I was officially diagnosed.
I lived a pretty normal childhood, I crawled everywhere, nothing could stop me (except stairs.. I suppose I was a bit like a Dalek in that respect, you know, before they could go upstairs). My childhood saw me through a number of operations, I wore one of those plastic support things for a few months when I was little, I had a corrective operation on my feet at around 6 months old and I had to wear shoes to bed with bars across the bottom to try to keep my feet from turning inwards.
For me, I had kind of a lucky break. I got away with just a number of feet, legs and ankle problems, I have deformities in my legs, feet and lower back area, I have tiny kidneys, a few other things I don’t care to share and I’ve never been able to wiggle my toes. I have no feeling in my feet and no reflexes in my knees.
I was a late walker and my feet turned noticeably inwards, for the first 6 years of my life I walked on tip toes with my knees and feet turned inwards.
I was still pretty cool though.. You can really see in the picture below how weird my feet looked and how my feet naturally turn in.
When I was 6 I had an operation to turn my legs outwards and place my feet flat on the floor. Honestly? It changed my life. I don’t like to think what my life would have been like if not for this particular surgery.
I’ve had to wear orthopaedic shoes for much of my life, they are built up as I have one leg longer than the other and no arches in my feet. For me, thats been one of the harder things to deal with. Orthopaedic shoes are hideous, having to wear them every day to an all girls school? Super hideous. I tend not to wear them all the time these days, I make do with specially made insoles and wide fit shoes. I can at least feel a little more like a regular girl then.
I don’t really have proper calf muscles so my legs have always looked abnormal. This has made me so self conscious in later life especially as my thighs have ballooned to the size of 10 man life rafts. I tend to always wear trousers or longer dresses and skirts so the abnormality is less noticeable.
I’ve had a number of operations as I have gotten older, my ankles are full of pins and I have had reconstructive surgery on my bladder, I had a toe amputated too. After each surgery on my feet and ankles I effectively had to teach myself to walk again.
Until recently, my last major surgery was to have my left ankle completely fused which changed my life, I was able to walk well, in less pain than I’d be in for years.
In recent years I plodded along pretty nicely with not too many problems, the last 18 months though have seen things go downhill a little, I had the start of some hip problems and I had to have a steriod injection in my hip in a bid to slow down the need for a hip replacement and more recently I had to have my right ankle debrided to attempt to ease my pain (you can read about that here). I’m currently waiting on a date for a Total Hip Replacment which should come any day now, once I’m healed and recovered, I will be having my right ankle completely fused in a bid to combat the pain and inability to walk I face some days.
For the most part, I know how lucky I am. I watched “Jimmy’s” when I was a kid, I heard abut Great Ormond Street and I was thankful I wasn’t a child stuck in a hospital all my life. I was thankful I could walk and I had freedom to be myself. When I was younger, my mum was put in touch with a few families whose child had Sacral Agenesis in the UK, mum was able to share experiences with other similiar families. Through iSacra.org in recent years, I have found many adults with Sacral Agenesis and it’s heartening to hear their stories and read about their lives.
Some days are hard. I can’t even begin to explain how hard some of my days are, on those days I could weep with frustration and I find myself bargaining with a God I don’t believe in for one tiny, little break. I share little of the true extent of how my life really is and so I don’t expect people who know me to understand. I hate my body, I hate how I’ve never worn a pair of high heels. I HATE that I have never once wiggled my toes.
Other days, I thank my lucky stars. I have a job, I was able to complete a full education, I wasn’t bullied at school (even though I looked different, walked different and had to have a classroom helper, I even had to have callipers one time, I would have thrown those over the railway bridge if I had been made to wear them longer than I had too), I have worked since I was 18, mostly in full time employment. I got married, I am loved and I am lucky, so lucky. I am beyong grateful to the people who love me, my family, my mum, my dad, my husband who help me every day to accept the differences that have made me unique, made me the person that I am today.
So today on Sacral Agenesis Awareness Day, take 5 minutes out of your day to find out something new about iSacra (website here), discover something you didn’t know about the people who live with Sacral Agenesis and ask me – what better way to raise your awareness.
Thank you for reading. Feel free to get in touch via the comment box below.